Pachydermoperiostosis

Common Name(s)

Pachydermoperiostosis

Pachydermoperiostosis is a rare disorder characterized by clubbing of the fingers and toes; thickening of the skin of the face (pachyderma); excessive sweating (hyperhidrosis); and new bone formation associated with joint pain. Other features may include congenital heart disease and delayed closure of fontanelles. This condition typically appears during childhood or adolescence, often around the time of puberty, and progresses slowly for about ten years. Both autosomal dominant and autosomal recessive inheritance has been reported.  Mutations in the HPGD gene have been found in those with the autosomal recessive form of this condition.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pachydermoperiostosis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pachydermoperiostosis" returned 36 free, full-text research articles on human participants. First 3 results:

A rare case of pachydermoperiostosis associated with blepharoptosis and floppy eyelids.
 

Author(s): Bipasha Mukherjee, Md Shahid Alam

Journal: Indian J Ophthalmol. 2016 Dec;64(12):938-940.

 

Pachydermoperiostosis (PDP) is a multisystem disorder of mesenchymal origin. It is a form of hypertrophic osteoarthropathy. The typical clinical features include pachydermia, cutis verticus gyrata, digital clubbing, and periostosis. Patients present with mechanical ptosis resulting ...

Last Updated: 31 Dec 1969

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A rare cause of finger clubbing : Pachydermoperiostosis.
 

Author(s): Mouna Gourine, Mohammed Arrar, Anwer Cherrak

Journal: Tunis Med. 2016 Feb;94(2):152-5.

 

Pachydermoperiostosis or primary hypertrophic osteoarthropathy is a rare disorder with autosomal inheritance. It is characterized by finger clubbing, periostosis and sometimes skin changes as pachydermia. It occurs more commnly in young and male subjects. An underlying disease as ...

Last Updated: 31 Dec 1969

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Identification of the Mutations in the Prostaglandin Transporter Gene, SLCO2A1 and Clinical Characterization in Korean Patients with Pachydermoperiostosis.
 

Author(s): Sihoon Lee, So Young Park, Hyun Jin Kwon, Chul-Ho Lee, Ok-Hwa Kim, Yumie Rhee

Journal: J. Korean Med. Sci.. 2016 May;31(5):735-42.

 

Pachydermoperiostosis (PDP), or primary hypertrophic osteoarthropathy, is a rare genetic disease affecting both skin and bones. Both autosomal dominant with incomplete penetrance and recessive inheritance of PDP have been previously confirmed. Recently, hydroxyprostaglandin dehydrogenase ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pachydermoperiostosis" returned 1 free, full-text review articles on human participants. First 3 results:

Pachydermoperiostosis with myelofibrosis and anemia: report of a case of anemia of multifactorial causes and its improvement with steroid pulse and iron therapy.
 

Author(s): H Tanaka, S Maehama, F Imanaka, A Sakai, K Abe, M Hamada, J Yamashita, A Kimura, N Imamura, K Fujimura

Journal: Jpn. J. Med.. ;30(1):73-80.

 

A 26-year-old male patient with pachydermoperiostosis is reported. He had severe anemia with myelofibrosis. Treatment with iron, prednisolone, oxymethorone and 1 alpha (OH)D3 were not satisfactory. But steroid pulse therapy with parenteral iron improved his anemia and pancytopenia, ...

Last Updated: 31 Dec 1969

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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